In honor of Tracheoesophageal fistula/esophageal atresia awareness month (Shew. That’s a mouthful), I wanted to write a blog for Silas; his story thus far.
He is 20 pounds today. It doesn’t seem like much for a 14 month old, but to us it’s worth cheering for. It’s been a road for him, nothing like cancer, nothing life threatening, but it’s just different from what we have ever known. It’s new for us every day, and we continue finding out new things about our boy week after week that we never knew. I haven’t sat and read through the “What To Expect” series of books, because I don’t think anyone, including his doctors have really known what to expect. It’s not anything to be upset or worried over. We know there is an amazing God watching over us. It’s still hard to not be anxious but we know that life is worth celebrating, no matter the circumstance. We play the guessing game and take it from one day to the next, hoping for answers and relativity in the process.
Silas was born with a series of birth defects. Again, at the time they were life threatening, but nothing that surgery wasn’t going to fix. There were small defects, like limb abnormalities, the odd shape of his ears, branchial cleft cysts, right aortic arch and ptosis of his eyelid, and more serious things, like his TE Fistula (gap in his esophagus) and his PDA (congenital heart defect). We later came to understand his hearing loss and auditory neuropathy, as well as the need for genetic testing in order to find a name for the pieces of the puzzle we were working with. We began hearing and speech therapy, physical therapy and occupational therapy. We have become masters of the feeding tube – and can change out milk and press buttons in the dark.
There’s other things we came to notice down the road with Silas that we weren’t able to understand. His lack of growth and inability to gain weight, his low muscle tone and inability to coordinate swallowing have all been things we’ve strived to strengthen. It’s still one day at a time, and the obstacles he has already overcome…well, they amaze us. There’s some things about Silas that I recognized from day one that I knew would help him be an overcomer. His determination, his happiness, and his strength to persevere. He truly puts our views of what is “normal”, our expectations, in to perspective with how he handles everything he goes through.
I sit and stare at him sometimes while he is sleeping. I stroke his back and hope he senses how much I love him. Sometimes he smiles in his sleep and even when I disturb and wake him, he rolls towards me, grinning from ear to ear, wanting to press his nose against mine. It’s kind of our thing – and I feel like he returns the love he feels that way. He is such a snuggler, always wanting to be held tight. Always crawling to get to you, and when he does he crawls himself onto your lap and pulls himself up to get in your face. I look in his eyes and he will just gaze at me, for the longest time. I laugh and so does he. I know when things really hurt, because it’s only when he is in excruciating pain that he cries and can’t be comforted by presence. That doesn’t happen very often and I think people assume I exaggerate when I say he’s the happiest of babies.
We recently took a phone call from his geneticist team. As soon as she said “hello, we have results” I told her that I knew what she would say – and that I was relieved to finally have an answer.
Back in November we attended a retreat for children with hearing loss, called The CARE Project. While there, we met a couple who we instantly connected with. Their son is 18 and has CHARGE Syndrome. We spoke a lot about it while there, and that is where I became convinced of what I thought our results would be for Silas.
Silas in fact was diagnosed with CHARGE Syndrome. Genetic testing found a change in a prominent gene called CHD7 – a mutation that is linked with Charge, causing mild to severe birth defects in 1 out of 10,000 estimated live births. Silas’s characteristics of Charge appear to be more mild, non-life threatening, but there are children who are born with Charge who don’t survive their first year of life. Children who leave the world too soon as young adults from complications with the syndrome. There are children who go on to lead independent lives, those who need some help with daily tasks, and those who will never walk, see or hear, trached, tube fed and possibly dependent on others their whole lives. It’s a complex syndrome, an extreme range of mild to severe cases and a wide range of characteristics can affect a child with Charge.
We recently found out Silas is missing his semicircular canals (the balancing organs), along with other inner ear abnormalities, which are going to make walking a difficult task. However, upon learning about this balance disorder, his physical therapist was speechless and in awe of how determined and strong Silas has become over the last few months; crawling, sitting up on his own and now working towards standing with support. We don’t know what he will or will not do. He’s come so far and I see nothing but great progress in his future.
Thank you for taking the time to read about Silas’s progress and updates. We aim to bring more awareness to Charge Syndrome and hope you will find it helpful.
Each and every child, no matter what their differences, achievements or growth may look like, are beautiful and wonderful children of an Almighty God who makes them perfectly in His image.
To read more in depth on CHARGE Syndrome in children and young adults, please visit http://www.chargesyndrome.org